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The official name of this gene is “BUB1 mitotic checkpoint serine/threonine kinase B.”
BUB1B is the gene's official symbol. The BUB1B gene is also known by other names, listed below.
This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
Essential component of the mitotic checkpoint. Required for normal mitosis progression. The mitotic checkpoint delays anaphase until all chromosomes are properly attached to the mitotic spindle. One of its checkpoint functions is to inhibit the activity of the anaphase-promoting complex/cyclosome (APC/C) by blocking the binding of CDC20 to APC/C, independently of its kinase activity. The other is to monitor kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localization of CENPE. Negatively regulates PLK1 activity in interphase cells and suppresses centrosome amplification. Also implicated in triggering apoptosis in polyploid cells that exit aberrantly from mitotic arrest. May play a role for tumor suppression.
Defects in BUB1B are associated with tumor formation.
Premature chromatid separation trait (PCS): Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant. The disease is caused by mutations affecting the gene represented in this entry.
Mosaic variegated aneuploidy syndrome 1 (MVA1): A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. The disease is caused by mutations affecting the gene represented in this entry. MVA1 is caused by biallelic mutations in the BUB1B gene.
|||176430 (http://omim.org/entry/176430)||PREMATURE CHROMATID SEPARATION TRAIT|
|||257300 (http://omim.org/entry/257300)||MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1|
|602860 (http://omim.org/entry/602860)||BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF, BETA|
Cytogenetic Location: 15q15
Molecular Location on chromosome 15: base pairs 40,161,008 to 40,221,135
The BUB1B gene is located on the long (q) arm of chromosome 15 at position 15.
More precisely, the BUB1B gene is located from base pair 40,161,008 to base pair 40,221,135 on chromosome 15.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about BUB1B helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
anaphase ; aneuploidy ; apoptosis ; autosomal ; autosomal dominant ; cancer ; centrosome ; chromatid ; chromosome ; congenital ; developmental delay ; fertility ; gene ; heterozygous ; inheritance ; interphase ; intrauterine growth retardation ; kinase ; kinetochore ; leukemia ; metaphase ; microcephaly ; mitosis ; mosaic ; motor ; polyploid ; progression ; protein ; rhabdomyosarcoma ; segregation ; spectrum ; syndrome ; trait ; tumor ; Wilms tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.